Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	64837
Gene name	Kinesin light chain 2
Gene symbol	KLC2
Synonyms (NCBI Gene)	-
Chromosome	11
Chromosome location	11q13.2
Summary	The protein encoded by this gene is a light chain of kinesin, a molecular motor responsible for moving vesicles and organelles along microtubules. Defects in this gene are a cause of spastic paraplegia, optic atrophy, and neuropathy (SPOAN) syndrome. [pro

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SNP ID	Visualize variation	Clinical significance	Consequence
rs1554996989	GCTAGGGCTGTGGATGAGCACTGCAGGAAGGCACTTCGGGGTCTATCAGAGGAAATTTTTGCTAACCTTCCGAGTTGTCTCAGAGCCAAACGTAGTAAGCTACCTGTCACCGGATGTGCTTGAGCTAAGGGCGCTGAACCACCTCTGTCAGAGACGGTGCATCCCCCACCGGATGTGACCCCGGGATGCGGAGCCTGGGGTCAGATCTGCGAGCCAG>-	Pathogenic	Upstream transcript variant, 5 prime UTR variant, genic upstream transcript variant

171

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miRTarBase ID	miRNA	Experiments	Reference
MIRT049334	hsa-miR-92a-3p	CLASH	23622248
MIRT047944	hsa-miR-30c-5p	CLASH	23622248
MIRT043375	hsa-miR-331-3p	CLASH	23622248
MIRT042175	hsa-miR-484	CLASH	23622248
MIRT727349	hsa-miR-15a-5p	HITS-CLIP	22473208
MIRT727348	hsa-miR-15b-5p	HITS-CLIP	22473208
MIRT727347	hsa-miR-16-5p	HITS-CLIP	22473208
MIRT727346	hsa-miR-195-5p	HITS-CLIP	22473208
MIRT1095601	hsa-miR-10a	CLIP-seq
MIRT1095602	hsa-miR-10b	CLIP-seq
MIRT1095603	hsa-miR-1227	CLIP-seq
MIRT1095604	hsa-miR-125a-5p	CLIP-seq
MIRT1095605	hsa-miR-125b	CLIP-seq
MIRT1095606	hsa-miR-1273f	CLIP-seq
MIRT1095607	hsa-miR-143	CLIP-seq
MIRT1095608	hsa-miR-15a	CLIP-seq
MIRT1095609	hsa-miR-15b	CLIP-seq
MIRT1095610	hsa-miR-16	CLIP-seq
MIRT1095611	hsa-miR-185	CLIP-seq
MIRT1095612	hsa-miR-195	CLIP-seq
MIRT1095613	hsa-miR-214	CLIP-seq
MIRT1095614	hsa-miR-2278	CLIP-seq
MIRT1095615	hsa-miR-24	CLIP-seq
MIRT1095616	hsa-miR-3155	CLIP-seq
MIRT1095617	hsa-miR-3155b	CLIP-seq
MIRT1095618	hsa-miR-3184	CLIP-seq
MIRT1095619	hsa-miR-342-5p	CLIP-seq
MIRT1095620	hsa-miR-3619-5p	CLIP-seq
MIRT1095621	hsa-miR-3929	CLIP-seq
MIRT1095622	hsa-miR-3937	CLIP-seq
MIRT1095623	hsa-miR-409-5p	CLIP-seq
MIRT1095624	hsa-miR-423-5p	CLIP-seq
MIRT1095625	hsa-miR-424	CLIP-seq
MIRT1095626	hsa-miR-4306	CLIP-seq
MIRT1095627	hsa-miR-4319	CLIP-seq
MIRT1095628	hsa-miR-4324	CLIP-seq
MIRT1095629	hsa-miR-4419b	CLIP-seq
MIRT1095630	hsa-miR-4434	CLIP-seq
MIRT1095631	hsa-miR-4437	CLIP-seq
MIRT1095632	hsa-miR-4446-3p	CLIP-seq
MIRT1095633	hsa-miR-4455	CLIP-seq
MIRT1095634	hsa-miR-4478	CLIP-seq
MIRT1095635	hsa-miR-4492	CLIP-seq
MIRT1095636	hsa-miR-4498	CLIP-seq
MIRT1095637	hsa-miR-4505	CLIP-seq
MIRT1095638	hsa-miR-4516	CLIP-seq
MIRT1095639	hsa-miR-4641	CLIP-seq
MIRT1095640	hsa-miR-4644	CLIP-seq
MIRT1095641	hsa-miR-4651	CLIP-seq
MIRT1095642	hsa-miR-4664-5p	CLIP-seq
MIRT1095643	hsa-miR-4685-5p	CLIP-seq
MIRT1095644	hsa-miR-4690-5p	CLIP-seq
MIRT1095645	hsa-miR-4708-5p	CLIP-seq
MIRT1095646	hsa-miR-4710	CLIP-seq
MIRT1095647	hsa-miR-4731-5p	CLIP-seq
MIRT1095648	hsa-miR-4770	CLIP-seq
MIRT1095649	hsa-miR-497	CLIP-seq
MIRT1095650	hsa-miR-608	CLIP-seq
MIRT1095651	hsa-miR-761	CLIP-seq
MIRT1095652	hsa-miR-762	CLIP-seq
MIRT1095601	hsa-miR-10a	CLIP-seq
MIRT1095602	hsa-miR-10b	CLIP-seq
MIRT1095653	hsa-miR-1207-5p	CLIP-seq
MIRT1095604	hsa-miR-125a-5p	CLIP-seq
MIRT1095605	hsa-miR-125b	CLIP-seq
MIRT1095654	hsa-miR-148a	CLIP-seq
MIRT1095655	hsa-miR-148b	CLIP-seq
MIRT1095656	hsa-miR-152	CLIP-seq
MIRT1095657	hsa-miR-1538	CLIP-seq
MIRT1095611	hsa-miR-185	CLIP-seq
MIRT1095658	hsa-miR-3126-5p	CLIP-seq
MIRT1095618	hsa-miR-3184	CLIP-seq
MIRT1095659	hsa-miR-34a	CLIP-seq
MIRT1095660	hsa-miR-34c-5p	CLIP-seq
MIRT1095661	hsa-miR-3918	CLIP-seq
MIRT1095622	hsa-miR-3937	CLIP-seq
MIRT1095623	hsa-miR-409-5p	CLIP-seq
MIRT1095624	hsa-miR-423-5p	CLIP-seq
MIRT1095662	hsa-miR-4285	CLIP-seq
MIRT1095626	hsa-miR-4306	CLIP-seq
MIRT1095627	hsa-miR-4319	CLIP-seq
MIRT1095628	hsa-miR-4324	CLIP-seq
MIRT1095630	hsa-miR-4434	CLIP-seq
MIRT1095663	hsa-miR-4486	CLIP-seq
MIRT1095664	hsa-miR-449a	CLIP-seq
MIRT1095665	hsa-miR-449b	CLIP-seq
MIRT1095638	hsa-miR-4516	CLIP-seq
MIRT1095640	hsa-miR-4644	CLIP-seq
MIRT1095666	hsa-miR-4648	CLIP-seq
MIRT1095667	hsa-miR-4654	CLIP-seq
MIRT1095668	hsa-miR-4675	CLIP-seq
MIRT1095669	hsa-miR-4688	CLIP-seq
MIRT1095670	hsa-miR-4706	CLIP-seq
MIRT1095671	hsa-miR-4741	CLIP-seq
MIRT1095672	hsa-miR-4745-3p	CLIP-seq
MIRT1095673	hsa-miR-4749-5p	CLIP-seq
MIRT1095674	hsa-miR-4753-5p	CLIP-seq
MIRT1095675	hsa-miR-4763-3p	CLIP-seq
MIRT1095676	hsa-miR-4769-5p	CLIP-seq
MIRT1095677	hsa-miR-486-3p	CLIP-seq
MIRT1095678	hsa-miR-520f	CLIP-seq
MIRT1095679	hsa-miR-661	CLIP-seq
MIRT1095680	hsa-miR-744	CLIP-seq
MIRT2025692	hsa-miR-1287	CLIP-seq
MIRT2025693	hsa-miR-1291	CLIP-seq
MIRT1095657	hsa-miR-1538	CLIP-seq
MIRT2025694	hsa-miR-1976	CLIP-seq
MIRT1095614	hsa-miR-2278	CLIP-seq
MIRT1095615	hsa-miR-24	CLIP-seq
MIRT2025695	hsa-miR-3135b	CLIP-seq
MIRT1095616	hsa-miR-3155	CLIP-seq
MIRT1095617	hsa-miR-3155b	CLIP-seq
MIRT2025696	hsa-miR-3173-5p	CLIP-seq
MIRT1095618	hsa-miR-3184	CLIP-seq
MIRT2025697	hsa-miR-3202	CLIP-seq
MIRT1095619	hsa-miR-342-5p	CLIP-seq
MIRT2025698	hsa-miR-370	CLIP-seq
MIRT1095621	hsa-miR-3929	CLIP-seq
MIRT1095624	hsa-miR-423-5p	CLIP-seq
MIRT1095629	hsa-miR-4419b	CLIP-seq
MIRT1095631	hsa-miR-4437	CLIP-seq
MIRT1095632	hsa-miR-4446-3p	CLIP-seq
MIRT1095634	hsa-miR-4478	CLIP-seq
MIRT2025699	hsa-miR-4485	CLIP-seq
MIRT1095635	hsa-miR-4492	CLIP-seq
MIRT1095636	hsa-miR-4498	CLIP-seq
MIRT1095637	hsa-miR-4505	CLIP-seq
MIRT2025700	hsa-miR-4533	CLIP-seq
MIRT1095639	hsa-miR-4641	CLIP-seq
MIRT1095641	hsa-miR-4651	CLIP-seq
MIRT1095642	hsa-miR-4664-5p	CLIP-seq
MIRT1095643	hsa-miR-4685-5p	CLIP-seq
MIRT1095646	hsa-miR-4710	CLIP-seq
MIRT1095647	hsa-miR-4731-5p	CLIP-seq
MIRT1095672	hsa-miR-4745-3p	CLIP-seq
MIRT2025701	hsa-miR-4785	CLIP-seq
MIRT1095650	hsa-miR-608	CLIP-seq
MIRT2025702	hsa-miR-627	CLIP-seq
MIRT1095652	hsa-miR-762	CLIP-seq
MIRT1095603	hsa-miR-1227	CLIP-seq
MIRT2256886	hsa-miR-139-5p	CLIP-seq
MIRT1095608	hsa-miR-15a	CLIP-seq
MIRT1095609	hsa-miR-15b	CLIP-seq
MIRT1095610	hsa-miR-16	CLIP-seq
MIRT1095611	hsa-miR-185	CLIP-seq
MIRT1095612	hsa-miR-195	CLIP-seq
MIRT1095613	hsa-miR-214	CLIP-seq
MIRT2256887	hsa-miR-3120-3p	CLIP-seq
MIRT1095618	hsa-miR-3184	CLIP-seq
MIRT1095619	hsa-miR-342-5p	CLIP-seq
MIRT1095620	hsa-miR-3619-5p	CLIP-seq
MIRT1095624	hsa-miR-423-5p	CLIP-seq
MIRT1095625	hsa-miR-424	CLIP-seq
MIRT1095626	hsa-miR-4306	CLIP-seq
MIRT1095632	hsa-miR-4446-3p	CLIP-seq
MIRT1095633	hsa-miR-4455	CLIP-seq
MIRT1095635	hsa-miR-4492	CLIP-seq
MIRT1095636	hsa-miR-4498	CLIP-seq
MIRT1095637	hsa-miR-4505	CLIP-seq
MIRT1095639	hsa-miR-4641	CLIP-seq
MIRT1095640	hsa-miR-4644	CLIP-seq
MIRT1095641	hsa-miR-4651	CLIP-seq
MIRT1095642	hsa-miR-4664-5p	CLIP-seq
MIRT1095644	hsa-miR-4690-5p	CLIP-seq
MIRT1095646	hsa-miR-4710	CLIP-seq
MIRT1095647	hsa-miR-4731-5p	CLIP-seq
MIRT2256888	hsa-miR-4755-3p	CLIP-seq
MIRT1095649	hsa-miR-497	CLIP-seq
MIRT1095650	hsa-miR-608	CLIP-seq
MIRT1095651	hsa-miR-761	CLIP-seq
MIRT1095652	hsa-miR-762	CLIP-seq

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GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	14985359, 15161933, 15778465, 25855459, 28514442, 33961781, 35271311, 36217029, 36931259
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005739	Component	Mitochondrion	IDA
GO:0005764	Component	Lysosome	IEA
GO:0005765	Component	Lysosomal membrane	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	ISS
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IEA
GO:0005871	Component	Kinesin complex	IEA
GO:0005871	Component	Kinesin complex	ISS
GO:0005874	Component	Microtubule	IEA
GO:0005886	Component	Plasma membrane	IDA
GO:0007018	Process	Microtubule-based movement	IBA
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IEA
GO:0016938	Component	Kinesin I complex	NAS	20510358
GO:0019894	Function	Kinesin binding	IBA
GO:0019894	Function	Kinesin binding	ISS
GO:0032418	Process	Lysosome localization	IMP	22172677
GO:0032991	Component	Protein-containing complex	IDA
GO:0045296	Function	Cadherin binding	HDA	25468996

MIM	HGNC	e!Ensembl
611729	20716	ENSG00000174996

Q9H0B6

Protein name

Kinesin light chain 2 (KLC 2)

Protein function

Kinesin is a microtubule-associated force-producing protein that plays a role in organelle transport. The light chain functions in coupling of cargo to the heavy chain or in the modulation of its ATPase activity (Probable). Through binding with

PDB

3CEQ , 3EDT

Family and domains

Pfam

Accession	ID	Position in sequence	Type
PF13424	TPR_12	196 → 272	Repeat
PF13424	TPR_12	261 → 314	Repeat
PF13424	TPR_12	280 → 356	Repeat
PF13424	TPR_12	322 → 397	Repeat

Sequence

MAMMVFPREEKLSQDEIVLGTKAVIQGLETLRGEHRALLAPLVAPEAGEAEPGSQERCIL
LRRSLEAIELGLGEAQVILALSSHLGAVESEKQKLRAQVRRLVQENQWLREELAGTQQKL
QRSEQAVAQLEEEKQHLLFMSQIRKLDEDASPNEEKGDVPKDTLDDLFPNEDEQSPAPSP
GGGDVSGQHGGYEIPARLRTLHNLVIQYASQGRYEVAVPLCKQALEDLEKTSGHDHPDVA
TMLNILALVYRDQNKYKEAAHLLNDALAIREKTLGKDHPAVAATLNNLAVLYGKRGKYKE
AEPLCKRALEIREKVLGKFHPDVAKQLSNLALLCQNQGKAEEVEYYYRRALEIYATRLGP
DDPNVAKTKNNLASCYLKQGKYQDAETLYKEILTRAHEKEFGSVNGDNKPIWMHAEEREE
SKDKRRDSAPYGEYGSWYKACKVDSPTVNTTLRSLGALYRRQGKLEAAHTLEDCASRNRK
QGLDPASQTKVVELLKDGSGRRGDRRSSRDMAGGAGPRSESDLEDVGPTAEWNGDGSGSL
RRSGSFGKLRDALRRSSEMLVKKLQGGTPQEPPNPRMKRASSLNFLNKSVEEPTQPGGTG
LSDSRTLSSSSMDLSRRSSLVG

Sequence length

622

Interactions

View interactions

	KEGG		Reactome
	Motor proteins Alzheimer disease Parkinson disease Amyotrophic lateral sclerosis Huntington disease Prion disease Pathways of neurodegeneration - multiple diseases Salmonella infection		MHC class II antigen presentation RHO GTPases activate KTN1 COPI-dependent Golgi-to-ER retrograde traffic Kinesins

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
See cases	Pathogenic	rs2134783712	RCV003313805
Spastic paraplegia, optic atropy, and neuropathy	Pathogenic	rs1554996989	RCV000207491

Show/Hide Unknown Diseases (9)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Clear cell carcinoma of kidney	Benign	rs11825510	RCV005911736
Colon adenocarcinoma	Uncertain significance; Benign	rs201554573, rs11825510	RCV005932234 RCV005911735
Gastric cancer	Benign	rs11825510	RCV005911738
KLC2-related disorder	Likely benign; Uncertain significance	rs199498417, rs143312355, rs61729298, rs377530340	RCV004758223 RCV003906326 RCV004758286 RCV003954693
Lung cancer	Benign	rs11825510	RCV005911740
Malignant lymphoma, large B-cell, diffuse	Uncertain significance	rs61729298	RCV005934784
Sarcoma	Benign	rs11825510	RCV005911737
Thyroid cancer, nonmedullary, 1	Benign	rs11825510	RCV005911739
Uterine corpus endometrial carcinoma	Benign	rs11825510	RCV005911741

Show/Hide Text Mining Associations (3)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Carcinoma Hepatocellular	Associate	35563834
Carcinoma Non Small Cell Lung	Associate	25668010
Lung Neoplasms	Stimulate	37055376

KLC2 (kinesin light chain 2)